Roca Iria相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

GRIN2A基因中的一种新型错义突变会导致非癫痫性神经发育障碍

期刊:Movement Disorders

影响因子:7.6

doi:10.1002/mds.27315

Fernández-Marmiesse, Ana; Kusumoto, Hirofumi; Rekarte, Saray; Roca, Iria; Zhang, Jin; Myers, Scott J; Traynelis, Stephen F; Couce, Mª Luz; Gutierrez-Solana, Luis; Yuan, Hongjie

发育与干细胞

发表日期：2018

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Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes

根据相应基因的突变耐受性和突变结构，对下一代测序检测到的变异进行优先级排序

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms19061584

Roca, Iria; Fernández-Marmiesse, Ana; Gouveia, Sofía; Segovia, Marta; Couce, María L

发表日期：2018

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Carbohydrate status in patients with phenylketonuria

苯丙酮尿症患者的碳水化合物状况

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-018-0847-x

Couce, María L; Sánchez-Pintos, Paula; Vitoria, Isidro; De Castro, María-José; Aldámiz-Echevarría, Luís; Correcher, Patricia; Fernández-Marmiesse, Ana; Roca, Iria; Hermida, Alvaro; Martínez-Olmos, Miguel; Leis, Rosaura

发表日期：2018

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Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.

对导致儿童期发病共济失调和非梗阻性心肌病的 TSFM 突变进行分子遗传学表征和挽救

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/ejhg.2016.124

Emperador Sonia, Bayona-Bafaluy M Pilar, FernÃ¡ndez-Marmiesse Ana, Pineda Mercedes, Felgueroso Blanca, LÃ³pez-Gallardo Ester, Artuch Rafael, Roca Iria, Ruiz-Pesini Eduardo, Couce MarÃa Luz, Montoya Julio

发表日期：2016

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Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

高苯丙氨酸血症患者的血脂谱状况及其他相关因素

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-016-0508-x

Couce, María L; Vitoria, Isidro; Aldámiz-Echevarría, Luís; Fernández-Marmiesse, Ana; Roca, Iria; Llarena, Marta; Sánchez-Pintos, Paula; Leis, Rosaura; Hermida, Alvaro

发表日期：2016

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